My Unsolved Symptoms Add Flair to My Rare

These days, I’ve been soaking up all the true crime content I can set my eyes and ears on.

Documentaries, podcasts, “Dateline” episodes that I now look forward to every Friday night — I’ve become engrossed in real-life stories about missing persons and murders. More specifically, I have become hooked on unsolved mysteries. My mind is a sponge to this type of narrative. I need to know all the details. I need to do my own research of the crime scene and develop my own hypotheses. And I need to have answers.

As we all know, unsolved mysteries don’t work that way. There could be an abundance of information and educated predictions based upon those findings. But sometimes the evidence isn’t enough, and mysteries regrettably go unsolved.

When I get lost in the complexities of these storylines, I find similar parallels to my own unsolved problems: the mysterious and ever-present symptoms my body faces on a daily basis. Thankfully, it isn’t a “Dateline” episode. But living with SMA certainly brings a level of mystique to my life.

Presenting the evidence is always the easy part. I have this pain in my stomach. Drainage is coming out of my ear. My lungs are clear, but I’m having trouble breathing. The list of my symptoms is plenty. And while the evidence is indicative that something is going on, it isn’t quite as easy to solve when there are several variables at play. Like unsolved mysteries, the human body is complex. Add a rare disease like SMA to the mix, and this amplifies the allure of the storyline.

My doctors know this storyline all too well. Around the hospital, I am more commonly known as their spotted zebra. I remember feeling uneasy the first time I heard it, but as the years have passed, it has grown on me. After all, I can’t imagine witnessing a spotted zebra in real life. Although if I did, I would imagine I’d be drawn to its mystique.

I earned this nickname a few years ago when I was getting a Spinraza (nusinersen) injection. In prepping the nurses as they suited up for the procedure, I heard my surgeon say the words, “Alyssa is our spotted zebra.”

He said it in such a gleeful tone. It was evident he saw my rare disease as an exciting challenge and not a tragic loss. He recognized that my diagnosis was one that stretched beyond a medical textbook and would need to treat it as such. I’m fortunate to have doctors like this who learn the complexity of my case rather than cower away from it.

Although it took some time to grow accustomed to my appropriately dubbed nickname, I eventually came to the realization that being a spotted zebra was a rare gem I was happy to call my own. Soon, the name caught on with my other specialists, who all agreed the name suited me well. I’ll never forget that moment.

On Feb. 28, the world will be celebrating Rare Disease Day, an opportunity for millions of spotted zebras like me to raise awareness about our conditions and celebrate our spots as something that truly makes us unique. It’s an opportunity to show the world how we embrace our rarities and choose to wear them proudly — mysterious symptoms, head-scratching appointments, and unsolved diagnoses included. I’ve never known a good storyline to not include an element of mystery, after all. Perhaps the same holds true for those living with rare diseases as well.

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Note: SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of SMA News Today, or its parent company, BioNews, and are intended to spark discussion about issues pertaining to spinal muscular atrophy.